Varaico: Literature-Extracted Genetic Variants

Gene:RPS20
Variant:p.V54L
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RPS20

NM_001023.4:p.V54L

Associated Papers

Association of RPS20 Loss-of-Function Variants With Colorectal Cancer Risk in a Cohort of Over 950,000 Individuals.

Herrera-Mullar J et al.

Jco Precision Oncology, 2025

New RPS20 gene variant in colorectal cancer diagnosis: insight from a large series of patients.

Amiot J et al.

Familial Cancer, 2025

Deficiency of the ribosomal protein uS10 (RPS20) reorganizes human cells translatome according to the abundance, CDS length and GC content of mRNAs.

Tian Y et al.

Open Biology, 2024

Changes in the Transcriptome Caused by Mutations in the Ribosomal Protein uS10 Associated with a Predisposition to Colorectal Cancer.

Tian Y et al.

International Journal of Molecular Sciences, 2022

Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia.

Bhar S et al.

Human Mutation, 2020

Candidate genes for hereditary colorectal cancer: Mutational screening and systematic review.

Belhadj S et al.

Human Mutation, 2020

Dominantly Inherited Hereditary Nonpolyposis Colorectal Cancer Not Caused by MMR Genes.

Terradas M et al.

Journal of Clinical Medicine, 2020

A novel ribosomal protein S20 variant in a family with unexplained colorectal cancer and polyposis.

Thompson BA et al.

Clinical Genetics, 2020

New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients.

Djursby M et al.

Frontiers in Genetics, 2020

Validation of Recently Proposed Colorectal Cancer Susceptibility Gene Variants in an Analysis of Families and Patients-a Systematic Review.

Broderick P et al.

Gastroenterology, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."